Variant report

Variant	rs4251700
Chromosome Location	chr17:34134676-34134677
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr17:34134398-34135081	HUVEC	blood vessel:	n/a	chr17:34134597-34134608
2	HCFC1	chr17:34134341-34137752	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr17:34134059-34137565	IMR90	lung:	n/a	n/a
4	SREBP1	chr17:34134666-34137123	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:34134673..34137724-chr17:34141957..34146258,6	MCF-7	breast:
2	chr17:33987664..33989380-chr17:34132554..34135013,3	K562	blood:
3	chr17:33913527..33915363-chr17:34134013..34136643,3	MCF-7	breast:
4	chr17:34101120..34102648-chr17:34132276..34135170,2	MCF-7	breast:

Variant related genes	Relation type
TAF15	TF binding region
ENSG00000006125	Chromatin interaction
ENSG00000267347	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10451309	0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs16971508	0.83[AFR][1000 genomes]
rs2242596	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs2242597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2280783	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2280786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2280788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2293789	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2526331	0.89[EUR][1000 genomes]
rs2702958	0.89[EUR][1000 genomes]
rs2735499	0.89[EUR][1000 genomes]
rs28914802	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28914816	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28914817	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28914819	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3826454	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4251704	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4251710	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4251720	0.81[AFR][1000 genomes]
rs4251734	0.81[AFR][1000 genomes]
rs4251739	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4251757	0.82[YRI][hapmap]
rs55680144	0.89[EUR][1000 genomes]
rs55781042	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55792948	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55799023	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55833673	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55846484	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55906604	0.89[EUR][1000 genomes]
rs55915639	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55951822	0.89[EUR][1000 genomes]
rs56029903	1.00[EUR][1000 genomes]
rs56077005	0.89[EUR][1000 genomes]
rs56111312	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56170514	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56181735	1.00[EUR][1000 genomes]
rs56221144	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56262662	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56305516	1.00[EUR][1000 genomes]
rs56347933	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56382694	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60040900	0.87[ASN][1000 genomes]
rs72483217	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9901469	0.92[ASN][1000 genomes]
rs9907320	0.92[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4251700	GAS2L2	cis	Heart Left Ventricle	GTEx
rs4251700	GAS2L2	cis	Muscle Skeletal	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34127000-34135400	Weak transcription	Liver	Liver
2	chr17:34127200-34135000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:34127600-34135800	Weak transcription	Aorta	Aorta
4	chr17:34128800-34135400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:34129000-34134800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:34129000-34135000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr17:34129000-34135200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:34129000-34135200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr17:34129000-34135400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:34129000-34135400	Weak transcription	Spleen	Spleen
11	chr17:34129000-34135800	Weak transcription	Right Atrium	heart
12	chr17:34129200-34135000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:34129200-34135000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:34129200-34135200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr17:34129200-34135200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:34129200-34135200	Weak transcription	Colonic Mucosa	Colon
17	chr17:34129200-34135400	Weak transcription	Primary T cells from cord blood	blood
18	chr17:34129200-34135400	Weak transcription	Adipose Nuclei	Adipose
19	chr17:34129200-34135400	Weak transcription	Brain Anterior Caudate	brain
20	chr17:34129200-34135400	Weak transcription	Brain Substantia Nigra	brain
21	chr17:34129200-34135600	Weak transcription	Brain Germinal Matrix	brain
22	chr17:34129200-34135600	Weak transcription	HSMMtube	muscle
23	chr17:34129200-34135800	Weak transcription	Esophagus	oesophagus
24	chr17:34129400-34135400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr17:34129400-34135400	Weak transcription	Lung	lung
26	chr17:34132000-34135200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr17:34132000-34135400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr17:34132200-34134800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr17:34132200-34135000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr17:34132200-34135000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr17:34132200-34135000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr17:34132200-34135000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr17:34132200-34135000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:34132200-34135000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:34132200-34135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr17:34132200-34135200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr17:34132200-34135200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr17:34132200-34135200	Weak transcription	Fetal Muscle Leg	muscle
39	chr17:34132200-34135400	Weak transcription	Fetal Intestine Large	intestine
40	chr17:34132200-34135400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr17:34132200-34135600	Weak transcription	Fetal Heart	heart
42	chr17:34132200-34135600	Weak transcription	Placenta	Placenta
43	chr17:34132400-34135400	Weak transcription	Brain Hippocampus Middle	brain
44	chr17:34132400-34135400	Weak transcription	GM12878-XiMat	blood
45	chr17:34132400-34135600	Weak transcription	Colon Smooth Muscle	Colon
46	chr17:34132400-34135600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr17:34132800-34135200	Enhancers	HepG2	liver
48	chr17:34133200-34135000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr17:34133200-34135600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr17:34133600-34135000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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